OBO ID: DOID:0111840 |
Term Name: | Van Esch-O'Driscoll syndrome | Search Ontology: | |
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Definition: | A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. https://www.ncbi.nlm.nih.gov/pubmed/31006512 | ||
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Ontology: | Human Disease ( DOID:0111840 ) |
OTHER Van Esch-O'Driscoll syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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